MCID: FCC003
MIFTS: 20

Faciocardiomelic Dysplasia, Lethal

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Faciocardiomelic Dysplasia, Lethal

MalaCards integrated aliases for Faciocardiomelic Dysplasia, Lethal:

Name: Faciocardiomelic Dysplasia, Lethal 56 29 71
Faciocardiomelic Dysplasia Lethal 52
Lethal Faciocardiomelic Dysplasia 58

Characteristics:

Orphanet epidemiological data:

58
lethal faciocardiomelic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
faciocardiomelic dysplasia, lethal:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 227270
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1856891
Orphanet 58 ORPHA1972
MedGen 41 C1856891
UMLS 71 C1856891

Summaries for Faciocardiomelic Dysplasia, Lethal

MalaCards based summary : Faciocardiomelic Dysplasia, Lethal, also known as faciocardiomelic dysplasia lethal, is related to ulnar hypoplasia and autosomal recessive disease. Affiliated tissues include heart and bone, and related phenotypes are narrow mouth and intrauterine growth retardation

More information from OMIM: 227270

Related Diseases for Faciocardiomelic Dysplasia, Lethal

Diseases related to Faciocardiomelic Dysplasia, Lethal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ulnar hypoplasia 10.2
2 autosomal recessive disease 10.2
3 clubfoot 10.2
4 polyhydramnios 10.2
5 dwarfism 10.2

Graphical network of the top 20 diseases related to Faciocardiomelic Dysplasia, Lethal:



Diseases related to Faciocardiomelic Dysplasia, Lethal

Symptoms & Phenotypes for Faciocardiomelic Dysplasia, Lethal

Human phenotypes related to Faciocardiomelic Dysplasia, Lethal:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 hypoplastic left heart 58 31 hallmark (90%) Very frequent (99-80%) HP:0004383
4 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
5 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
6 short thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009778
7 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
8 hypoplasia of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0003022
9 hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002984
10 fibular hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003038
11 short tibia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005736
12 radial club hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0004059
13 short 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009237
14 microglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000171
15 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
16 retrognathia 31 HP:0000278
17 micrognathia 31 HP:0000347
18 talipes 31 HP:0001883
19 single transverse palmar crease 31 HP:0000954
20 abnormality of cardiovascular system morphology 31 HP:0030680
21 small for gestational age 31 HP:0001518
22 radial deviation of the hand 31 HP:0009486

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
retrognathia
micrognathia
microglossia
microstomia

Growth:
neonatal death
low birth weight

Limbs:
talipes
fibular hypoplasia
radial hypoplasia
ulnar hypoplasia
simian creases
more
Cardiac:
congenital heart malformation

Clinical features from OMIM:

227270

Drugs & Therapeutics for Faciocardiomelic Dysplasia, Lethal

Search Clinical Trials , NIH Clinical Center for Faciocardiomelic Dysplasia, Lethal

Genetic Tests for Faciocardiomelic Dysplasia, Lethal

Genetic tests related to Faciocardiomelic Dysplasia, Lethal:

# Genetic test Affiliating Genes
1 Faciocardiomelic Dysplasia, Lethal 29

Anatomical Context for Faciocardiomelic Dysplasia, Lethal

MalaCards organs/tissues related to Faciocardiomelic Dysplasia, Lethal:

40
Heart, Bone

Publications for Faciocardiomelic Dysplasia, Lethal

Articles related to Faciocardiomelic Dysplasia, Lethal:

# Title Authors PMID Year
1
Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder. 61
1218241 1975

Variations for Faciocardiomelic Dysplasia, Lethal

Expression for Faciocardiomelic Dysplasia, Lethal

Search GEO for disease gene expression data for Faciocardiomelic Dysplasia, Lethal.

Pathways for Faciocardiomelic Dysplasia, Lethal

GO Terms for Faciocardiomelic Dysplasia, Lethal

Sources for Faciocardiomelic Dysplasia, Lethal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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